tbuckley/cabot-search huggingface dataset:
PD13 Severe cutaneous manifestations in an Indian child with X-linked dominant erythropoietic protoporphyria
Authors: Sahana Srinivas, Celia Moss
Journal: British Journal of Dermatology (2023)

Abstract Erythropoietic protoporphyria (EPP) is usually caused by autosomal dominant mutations in FECH: raised protoporphyrin levels cause itching, burning and erythema after sun exposure, with facial scarring and sometimes liver damage. We report a child with the much rarer X-linked dominant form (XLDPP) and consider reasons for his unusually severe features. A 4-year-old boy living in India presented with long-standing erosions and scarring on the face and sides of the feet, and marked distal onycholysis with subungual hyperkeratosis affecting all nails, suggestive of pachyonychia congenita (PC). There was no relevant family history or parental consanguinity. He was anaemic (haemoglobin 7.2 g dL−1). Genetic testing revealed no variants in PC genes, but there was a hemizygous deletion in ALAS2, c.1706_1709del (p.Glu569GlyfsT er24) reported recurrently in XLDPP. Further review revealed a history of photosensitivity, low vitamin D3 and raised liver enzymes. Measurement of erythrocyte protoporphyrin was not available, but XLDPP was diagnosed on the basis of photosensitivity, liver abnormalities, probable photo-onycholysis and genetic testing. ALAS2 encodes 5-aminolaevulinate synthase, the first enzyme in the haem synthetic pathway. Most ALAS2 mutations block haemoglobin production resulting in sideroblastic anaemia. However, specific deletions, including this one, activate the pathway, increasing protoporphyrin to levels higher than what can be used in haematopoiesis. The manifestations of XLDPP therefore resemble EPP: protoporphyrin accumulation is caused in the former by increased production and in the latter by a block in its conversion to haem. Iron deficiency, common in Indian children, reduces haem production and consequently protoporphyrin utilization, potentially exacerbating the protoporphyrin accumulation caused by XLDPP. In a previous patient with XLDPP and anaemia due to gastrointestinal bleeding, iron therapy successfully lowered red cell protoporphyrin levels (Whatley SD, Ducamp S, Gouya L et al. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 2008; 83:408–14). Nail dystrophy has not previously been reported in XLDPP. The appearance here is consistent with photo-onycholysis in a child whose feet are always exposed in sandals. The delay in diagnosing photosensitivity and severity of his skin changes can be attributed to the difficulty in interpreting symptoms in young children and to local conditions where sun exposure is unavoidable. Management here involves iron therapy, photoprotection, monitoring of liver function and genetic counselling; female carriers may also have symptoms. We are grateful to national experts for helpful discussion of this case.
BT14 Diamonds in the rough: patient-captured images can be used to triage out benign lesions
Authors: Shafiah Muna Abdul Gafoor, Btari Adityani, Toby Nelson
Journal: British Journal of Dermatology (2023)

Abstract Dermatology is struggling with 2-week-wait (2WW) cancer referrals, resulting in a lack of capacity to review other dermatoses. National data indicate that only 6% of the 500 000 referrals are confirmed skin malignancies (www.england.nhs.uk/wp-content/uploads/2022/04/B0829-suspected-skin-cancer-two-week-wait-pathway-optimisation-guidance.pdf), and our local data suggest that 40% of referrals are, in fact, benign, with 24% being seborrhoeic keratoses. Could there be a way to triage these lesions safely? Novel consumer-level smartphone attachments could be the way forward. Patient-led teledermatology has proven to be a convenient, environmentally friendly way of assessing cutaneous lesions. Dermoscopic modalities such as the Molescape™ and Dyplens™ show promise in facilitating the triage of skin lesions, but have we really established the efficacy of these devices first-hand with our local patient cohorts? Studies suggest that the resolution and clarity of these images are comparable to clinical dermatoscopes. To challenge this theory, we obtained patient-led dermoscopic images of lesions that were referred under the 2WW pathway. We then allocated a blinded dermatology consultant to analyse these images (n = 50) for diagnoses and proposed management plan, based on the patient-captured image and brief history. We compared the proposed diagnoses with histological and clinical outcomes for those 50 patients. We found an accuracy of 78% vs. in-person assessment, but, most importantly, all benign lesions, including seborrhoeic keratoses, were excluded safely. All malignancies were triaged as suspicious with the use of these simple devices, with basal cell carcinomas (n = 3) being diagnosed with 100% accuracy. Could these smartphone attachments be the answer to improved national triaging pathways? We may have found a solution. However, will this affect patient expectation, experience and satisfaction? Surprisingly, our local survey revealed that 80% of our 2WW patients would prefer these devices as opposed to attending primary care or photograph clinics. We appreciate that patient-led dermoscopy may not have the accuracy needed to diagnose complex cutaneous lesions, and these will always warrant prompt clinical review. However, these pioneering devices may be the solution to filtering out simple benign lesions, preventing unnecessary hospital footfall and reducing carbon footprint. In keeping with the contemporaneous goals set by the National Health Service COVID-19 recovery plan, these innovative devices should be considered as part of our existing triage pathways, to help optimize skin cancer triage and treatment and to better patient care.
BT11 Bringing clinical photography closer to home: reporting on a prototype Community and Locality Imaging Centre model
Authors: Jacqueline Yu, Gillian X M Chin, Alyson Bryden, Andrew Coon, Shareen Muthiah, Colin Morton, Colin Fleming
Journal: British Journal of Dermatology (2023)

Abstract Teledermatology services are widely used and operate using different models. We work with a long-established teledermatology service across a mixed rural and urban population, where primary care attaches images of variable quality to secondary care referrals. We have previously reported that introduction of a high-quality image to select patients in this system can improve diagnostic accuracy. We now report on the establishment of a prototype Community and Locality Imaging Centre (CLIC) designed to capture high-quality photographs, including standardized macro, localizing and dermoscopy views to reduce travel for selected patients. We assessed the potential impact of this model over a 2-week period in one locality of our catchment area in spring 2022 through data review. In total, 203 referrals were screened by a single consultant over the 2 weeks of interest: 122 (60.1%) lesions and 81 (39.9%) rashes. Of all lesions referred, 51 (41.8%) were vetted to CLIC for the capture of additional, higher-quality images. Eighty-six per cent of patients referred to the CLIC attended their appointment. Of those who attended, 70% attended within 1–2 weeks, and just over 91% of patients attended within 4 weeks. Ninety-five per cent of patients who attended lived within a 10-mile radius. Of those who attended the CLIC, 36% were returned to primary care with advice or reassurance and did not require face-to-face appointments. The remaining patients were booked for appointments, with some given advice on treatment that could be initiated immediately while awaiting appointment. Our existing system allowed 29% of patients to be managed remotely. The introduction of a prototype CLIC permitted an extra 8% of referrals to be managed without attending dermatology, bringing this to a total of 37%. The prototype CLIC combined with the primary care image-capture teledermatology model allowed more patients to be managed remotely, and also permitted patients to bypass initial consultation and be appointed directly to services such as surgery, phototherapy and patch testing. The 91% attendance rate for the CLIC within 4 weeks suggests that patients found the model accessible. Meanwhile, shorter travel distances could potentially reduce overall patient carbon emission. The CLIC model can benefit patients who return to primary care, as they only need to attend for clinical photography instead of waiting for an in-person appointment. The introduction of a CLIC on an already efficient teledermatology model will enhance the patient journey and support efficient decision-making. The CLIC model is being developed through the use of a mobile app by trained nurses, with the intention to produce standardized, high-quality data suitable for real-world AI use.
BG07 VEXAS syndrome without the V: a New Zealand case report
Authors: Lauren Leightell-Brown, Sabine Sommer
Journal: British Journal of Dermatology (2023)

Abstract VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an autoinflammatory condition first described in 2020, often with cutaneous features. Effective treatments are yet to be established. We describe the case of a 60-year-old man who presented with rapidly enlarging cutaneous lesions to the face and neck, polychondritis, myalgia, arthralgia and fevers over a 2-month period. Skin biopsy showed a neutrophilic dermatosis with a differential diagnosis of seronegative rheumatoid neutrophilic dermatosis and atypical Sweet syndrome. His cutaneous complaints improved following treatment with prednisone 30 mg. His cutaneous symptoms relapsed on attempts to wean prednisone to &amp;lt; 20 mg. He then developed macrocytic anaemia and transient thrombocytopenia. He was then hospitalized and treated for community-acquired pneumonia. Bone marrow biopsy was normal and without evidence of vacuoles. The patient developed progressive fatigue and shortness of breath, with transient stenosing tenosynovitis and Raynaud symptoms over 3 years. He was most burdened by soft tissue and joint swelling, with muscular stiffness and pain particularly affecting his hands and feet. Methotrexate was partially effective in managing myalgia. Dapsone, hydroxy­chloroquine, mycophenolate, cyclophosphamide and colchicine were tried without benefit. Following a regional dermatology multidisciplinary team meeting, the patient was screened for VEXAS syndrome. Blood and bone marrow genetic testing found a UBA1 mutation load which is 50% of total DNA, confirming a diagnosis of VEXAS syndrome and the highest found in a New Zealand laboratory to date. Bone marrow images were re-examined, with no vacuolization noted. Our patient had a heterozygous UBA1C (Met41Leu) variant present in 50% of his blood and bone marrow DNA—to our knowledge the highest VEXAS genetic mutation seen in a New Zealand laboratory so far. Our case illustrates that, in patients with clinical evidence of VEXAS syndrome, the absence of vacuolization on bone marrow biopsy should not be a criterion for exclusion.
PA26 Paediatric atopic dermatitis: correlation between Eczema Area Severity Index, quality of life and visual analogue scale severity scores reported by children and their parents, and in different age groups
Authors: Pavan Sambi, Katharine Warburton, Rachel Montgomery, Mia Thompson, Parisha Majeethia, Sheila Clark
Journal: British Journal of Dermatology (2023)

Abstract Atopic dermatitis (AD) often has a significant impact on the quality of life (QoL) of those affected and their families. Validated QoL and visual analogue scales (VAS) are widely used in dermatology to measure the impact of this common disease. As part of a larger prospective study, we subanalysed data to look at the correlation between Eczema Area and Severity Index (EASI) score, three different QoL scores and parental/child VAS scores for overall severity, itch and sleep disturbance. Data were analysed from 68 paediatric patients with AD (42 males, 26 females), aged 4–16 years (mean 10 years, 0 months). Patient age groups were subdivided into 4–8 years (n = 17), 8–12 years (n = 25) and 12–16 years (n = 26). Scores for EASI, Children’s Dermatology Life Quality Index (CDLQI), Patient Oriented Eczema Measure (POEM) and Dermatitis Family Impact questionnaire (DFI) were measured, and VAS scores (0–10) were assessed for overall severity, itch and sleep loss. The mean EASI score for the cohort was 18.3, and comparable for all age groups: 4–8 years (17.6), 8–12 years (18.1) and 12–16 years (19.0). The CDLQI correlated with DFI (r = 0.72), POEM (r = 0.66) and overall VAS severity scores (r = 0.61). Further analysis by age group showed CDLQI correlated with POEM and DFI most strongly in younger age groups (4–8 years: POEM r = 0.86; DFI r = 0.77; 8–12 years: POEM r = 0.72; DFI r = 0.81) compared with older children aged (12–16 years: POEM r = 0.41; DFI r = 0.53). The CDLQI and VAS overall severity scores correlated consistently across age groups (4–8 years, r = 0.59; 8–12 years, r = 0.67; 12–16 years, r = 0.66). By comparing EASI with CDLQI scores, moderate correlation was found between the age groups (4–8 years, r = 0.39; 8–12 years, r = 0.53; 12–16 years, r = 0.46). Comparing EASI with the three VAS severity scores, we found poor correlation between EASI score and overall severity score (r = 0.24). This was most marked in the 4–8 years group (n = 17, r = 0.04) vs. the 8–12 years group (n = 25, r = 0.27) and 12–16 years group (n = 22, r = 0.33). Similarly, there was poor correlation between EASI and sleep loss score (r = 0.21) and itch score (r = 0.35) across all age groups. In our study, all of the existing validated QoL scores above correlated well with each other and across different age groups. The CDLQI and VAS severity scores also correlated consistently at all ages. There was poor correlation between EASI and VAS severity scores. This was more apparent in younger age groups, implying a high degree of caregiver distress due to eczema in younger children. This may indicate that as children mature their own perception of eczema may diverge from the perceived parental disease severity/impact on the family.
P104 Use of intravenous antibiotics in severe hidradenitis suppurativa: a multicentre retrospective study
Authors: Xiang Li Tan, Sally Aziz, Ellie Rashidghamat, Carolyn Hemsley, Simon Goldenberg, Ruth Lamb
Journal: British Journal of Dermatology (2023)

Abstract Hidradenitis suppurativa (HS) is a chronic inflammatory condition, characterized by recurrent abscesses and sinus tracts in intertriginous areas. Intravenous (IV) antibiotics are used in cases of severe HS after the failure of conventional therapies, or to optimize patients prior to initiation of biologics or surgery. However, there is limited evidence on the efficacy of IV antibiotics [Join-Lambert O, Coignard-Biehler H, Jais J-P et al. Efficacy of ertapenem in severe hidradenitis suppurativa: a pilot study in a cohort of 30 consecutive patients. J Antimicrob Chemother 2016; 71:513–20; Ingram JR, Collier F, Brown D et al. British Association of Dermatologists guidelines for the management of hidradenitis suppurativa (acne inversa) 2018. Br J Dermatol 2019; 180:1009–17]. Our aim was to determine the immediate and long-term impact of IV antibiotics in severe HS and to develop a pre- and post-IV antibiotics assessment and care pathway. We conducted a multicentre retrospective review of patients with HS treated with IV antibiotics at two tertiary HS centres between 2013 and 2022. In total, we included 30 patients (14 females and 16 males), with a mean (SD) age of 42.6 (12.8) years (range 15–66) and a mean (SD) body mass index of 29.96 (7.31) kg m−2. All patients were classified as Hurley stage 3. The majority of patients received ertapenem (n = 24); other antibiotics included ceftriaxone (n = 5) and meropenem (n = 1). Patients had an average of 38.7 days on treatment (range 14–56). There were statistically significant improvements at the completion of antibiotics in biochemical and haematological parameters, including C-reactive protein −27.5 mg L−1 [95% confidence interval (CI) −11 to −57; P &amp;lt; 0.003], white cell counts −1.75 × 109 cells L−1 (95% CI −0.95 to −2.80; P &amp;lt; 0.001) and haemoglobin +7 g L−1 (95% CI 2.5–13; P &amp;lt; 0.005). Dermatology Life Quality Index (out of 30) also improved significantly at completion (−5, 95% CI −1 to −10; P &amp;lt; 0.008). These were all maintained 12 months postcompletion. Clinical severity of HS assessed through pain visual analogue score (VAS), discharge VAS, DERMVAS, overall VAS, and HS Physician Global Assessment showed improvement but did not reach statistical significance. Improvement in discharge VAS [out of 10; −2, 95% CI −1.5 to −4.5 (P &amp;lt; 0.066)] achieved borderline significance. To our knowledge, this is the largest analysis of the efficacy of IV antibiotics in patients with the most severe form of HS (i.e. Hurley stage 3), where we show improvement in clinical parameters and quality of life. The findings of this study should encourage a randomized controlled study to determine conclusive evidence to guide the evidence-based management of severe HS and have informed the development of a more formal assessment pathway.
H06 Beauty is pain: symmetries in the cosmetic practices of ancient Rome and the modern day
Authors: Ahmad Elmansouri
Journal: British Journal of Dermatology (2023)

Abstract In the 21st century, the application of toxins, hair removal and skin bleaching are just a small part of an industry standard set by an influential few. There is a surprising degree of symmetry between modern-day practices and those of our ancient ancestors. Although the first use of cosmetics can be traced back to ancient Egypt, the Roman Empire developed such intricate practices that they affected fashion, law and public health. Paleness of skin indicated higher social status in the Roman Empire (625 Bc–Ad 476): it suggested one could afford to remain indoors. Cerussa—sugar of lead—was used to this end. Firstly, vinegar was applied to white lead shavings. Once the lead had dissolved and dried, it was ground and formed into tablets. Despite popular belief, the Romans were aware of the dangers of lead just as we are aware of the toxic nature of mercury and other harmful bleaching agents used by people in modern times. Just as modern influencers are able to shape beauty trends, it is likely that ancient writers held similar sway. In Ad 77, Pliny the Elder wrote that one’s eyelashes fell out from excessive sex and, understandably, the affluent Roman would not want to be regarded in such a light. Eyeliner created from soot and ash was applied with a needle or stick to increase the appearance of thickness of eyelashes. The Italian word for makeup is trucco (trick), and this viewpoint was reflected in several accounts. The poet Juvenal recorded that ‘A woman buys scents and lotions with adultery in mind’. Unfortunately, there is an absence of accounts by women delineating the female attitude towards cosmetics at the time. The modern desire to remove bodily hairs is mirrored by ancient Roman practice. Romans in high society would normally remove hairs, using anything from tweezers to ancient razors made of flint, but they also used hair as a distinctive feature. The emperor Augustus grew his beard and hair out on hearing the devastating news of the defeat of Varus, to reflect his mental state. Much like the $380 billion-dollar cosmetic industry, luxury cosmetics attained by high society had economic consequences. In 189 Bc, when Rome experienced economic strain, the controversial law of LexOppia was introduced, limiting the maximum wealth of women and subsequently their use of these luxury cosmetics. A surprising number of similarities exist between modern cosmetic practices, trends and harms and ancient Roman ones.
BI14 Photoprotection and skin cancer awareness in kidney transplant recipients living with HIV: a single-centre cross-sectional study
Authors: Fatima Ali, Antonia Cronin
Journal: British Journal of Dermatology (2023)

Abstract Kidney transplant recipients (KTRs) are up to 65 times more likely to develop nonmelanoma skin cancers than age-matched general populations. HIV has also been associated with increased skin cancer rates. However, to date, there has been no study evaluating photoprotection and skin cancer awareness in KTRs living with HIV (KTRLHIV). Using validated photoprotection and skin cancer awareness questionnaires, we evaluated knowledge and practices in KTRLHIV and an HIV-negative KTR cohort, matched for age, sex, ethnicity and years since transplant. KTRLHIV (n = 27) and matched HIV-negative KTRs (n = 25) completed the questionnaires. Thirty-four (65%) were male and 37 (71%) were Black. The average age was 56 years (range 43–74). On average, patients were 7.3 years post-transplant (range 0.7–24). Twenty-two (81%) KTRLHIV vs. 15 (60%) matched HIV-negative KTRs had not seen a dermatologist in the last year. Only 14 (52%) KTRLHIV had received sun protection advice vs. 20 (80%) of the matched KTRs (P = 0.033). There were statistically significant lower rates of overall sunscreen use in KTRLHIV compared with matched HIV-negative KTRs (33% vs. 60%; P = 0.054). Only a small proportion used sunscreen daily (22% vs. 27%), of a sun protection factor &amp;gt; 25 (78% vs. 100%). A strongly positive tetrachoric correlation coefficient of 0.77 indicated that providing photoprotection advice correlates to sunscreen use. Significantly lower rates of photoprotection behaviours were seen in the KTRLHIV compared with HIV-negative KTRs, particularly never avoiding direct sunlight (59% vs. 16%; P = 0.001) and never dressing to protect from the sun (52% vs. 12%; P = 0.002). We have identified statistically significant lower knowledge of photoprotection and skin cancer awareness in KTRLHIV vs. matched HIV-negative KTRs. Lower rates of skin cancer protection advice may have resulted in lower rates of sunscreen use and poorer photoprotection behaviours in KTRLHIV. A dedicated skin cancer awareness education to promote patient-led skin cancer prevention alongside formal dermatology referral is recommended.